Autoinflammatory & rare systemic diseases
Characterization of Genetic Landscape and Novel Inflammatory Biomarkers in Patients With Adult‐Onset Still's Disease
Authors' conclusion
Our study shows considerable genetic complexity within AOSD and demonstrates the potential utility of the ASC/NLRP3 specks assay for disease stratification and targeted treatment.
Study context
- Population
- Patients with Adult-onset Still disease (AOSD)cytokine cohort n = 106
- Participants
- 60 patients
- Exposure
- AOSD cases vs healthy controls
- AOSDn = 60
- Outcome
- Rare germline variants associated with monogenic autoinflammatory disorder (AIDs)
Methodological detailswhole exome sequencing with virtual gene panels, bulk RNA sequencing of whole blood, cytokine profiling
- Whole exome sequencing with virtual gene panels
- Bulk RNA sequencing of whole blood
- Cytokine profiling
Main finding
As reported in the abstract
Observational data: associations, not effects.
Further findings
| Outcome | P value |
|---|---|
| ASC/NLRP3 specks levels and type I IFN scoresAOSD vs HCs | P = 0.0001 |
| ASC/NLRP3 specks levels and type I IFN scoresAOSD vs HCs | P = 0.0015 |
| Cytokines significantly elevatedAOSD vs HCs | P < 0.0001 |
| Cytokines significantly elevatedAOSD vs HCs | P < 0.0075 |
| Cytokines significantly elevatedAOSD vs HCs | P = 0.0005 |
| Cytokines significantly elevatedAOSD vs HCs | P < 0.0001 |
| Cytokines significantly elevatedAOSD vs HCs | P < 0.0001 |
| Cytokines significantly elevatedAOSD vs HCs | P = 0.0009 |
| Cytokines significantly elevatedAOSD vs HCs | P = 0.0002 |
Original publication
Characterization of Genetic Landscape and Novel Inflammatory Biomarkers in Patients With Adult‐Onset Still's Disease. Arthritis Rheumatol. Published 16 December 2024. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →